A9S (p.Ala9Ser) variant of FKRP (Q9H9S5)
A9S (p.Ala9Ser) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 19-46755475-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available